Abstract:
INTRODUCTION:Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process. PATIENTS AND METHODS:The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages. RESULTS:In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs. CONCLUSIONS:The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype genotype correlation of the disease.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Martínez-Bermejo A,López-Martín V,Arcas J,Tendero A,Roche Herrero MC,Merino Msubject
Has Abstractpub_date
2003-07-01 00:00:00pages
55-9issue
1eissn
0210-0010issn
1576-6578pii
rn2003158journal_volume
37pub_type
杂志文章abstract:INTRODUCTION:Immigration is shaping a new model of society, with new needs and demands, whose characteristics must guide health-care policies. AIM. To determine the repercussions of the phenomenon of immigration on the extra-hospital neurological care carried out in Department 16 of the Agencia Valenciana de Salud (Val...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2009-08-16 00:00:00
abstract:AIMS:The aim of this study was to carry out a review of the state of the art in the endovascular treatment of carotid disease, taking into account the findings currently available, its indications, the technical aspects linked to the intervention as well as those related to the occupational training of the specialists ...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2005-12-16 00:00:00
abstract:INTRODUCTION:The term 'frontotemporal lobar dementia' (FTLD) covers a group of neurodegenerative diseases that are very heterogeneous in their clinical expression, genetic component and histopathological features, and this has traditionally made it difficult to study and classify them. Patients usually present a progre...
journal_title:Revista de neurologia
pub_type: 历史文章,杂志文章,评审
doi:
更新日期:2008-12-01 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:Neuropsychological performance in obsessive compulsive disorder (OCD) and its association with disfunctions in neuroanatomic structures and clinical symptoms of disorder has been reviewed. DEVELOPMENT:OCD symptoms and different aspects between children and adult psychopatology are presented....
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2002-11-16 00:00:00
abstract:INTRODUCTION:The research group from Willmes and colleagues is one of the most advanced research groups in cognitive neuroscience. The use and nature of the numeric magnitude representation constitutes one of the study objects of the mentioned research group. This mental representation provokes a great controversy amon...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2008-03-01 00:00:00
abstract:INTRODUCTION AND AIMS:Trepanation is one of the earliest examples of a surgical procedure being carried out by human beings and was performed from the Neolithic period onwards in a large number of primitive cultures throughout the five continents. Trepanation and cranial deformation were both common in the pre-Columbin...
journal_title:Revista de neurologia
pub_type: 历史文章,杂志文章
doi:
更新日期:2004-05-01 00:00:00
abstract:INTRODUCTION:Alzheimer's disease is 1.5 to 3 times more frequent in women than in men. This fact can be biased as women as a group have more long life survival. Semantic memory and naming are more frequently and severely impaired in women. DEVELOPMENT:Both genetic and environmental factors can contribute when one dete...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2001-06-16 00:00:00
abstract::Autism spectrum disorder (autism) is a highly prevalent and heterogeneous family of neurodevelopmental disorders of genetic origins with potentially devastating implications for child, family, health and educational systems. Despite advances in paper-and-pencil screening and in standardization of diagnostic procedures...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2015-02-25 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:Preliminary studies (phase III) have shown that treatment with beta-interferon 1a (avonex) is effective in diverse aspects of relapsing/remitting multiple sclerosis (RRMS). The present study discusses results of an opened prolonged (phase IV) trial at the Baylor/Methodist International Multip...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:INTRODUCTION:Throughout history a number of speculations have been put forward concerning the functional role of the pineal gland, perhaps some of the most important being the neurophysiological proposals by Descartes. DEVELOPMENT:The psychophysiological role conferred on the pineal gland by Descartes in the 17th cent...
journal_title:Revista de neurologia
pub_type: 历史文章,杂志文章,评审
doi:
更新日期:2010-01-16 00:00:00
abstract:INTRODUCTION:Fibrinolytic agents are effective in the treatment of acute ischemic stroke. However, logistic and clinical factors limit their use. Neuroprotective drugs pose less risks and can be used even before performance of computed tomography of the brain as they are not detrimental in hemorrhagic stroke. These asp...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract::It was recently suggested that lacunar strokes presenting with headache may be due to large intracranial artery disease. From the stroke database of the Neurology department, Hospital Sta Maria, we retrieved all lacunar strokes who had investigations of the intracranial circulation. Forty seven of the 208 lacunar stro...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1995-07-01 00:00:00
abstract:INTRODUCTION:The surgery of epilepsy is expanding considerably all over the world. It is becoming a standard treatment in patients who are resistant to conventional medical treatment. DEVELOPMENT:In this article we explain the methodology used by the authors and suggest concepts regarding the epileptogenous area. We a...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2000-06-16 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:We analyze the main factors influencing the time delay between onset and admission to the hospital in acute stroke. PATIENTS AND METHODS:Consecutive series of 1,344 patients with acute stroke or transient ischemic attack admitted at two reference hospitals of Valencia and included at the sam...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-12-01 00:00:00
abstract:INTRODUCTION AND DEVELOPMENT:Face recognition requires a special type of processing that is different to that used to recognise objects. The right medial region of the fusiform gyrus displays a higher degree of activation when dealing with faces, which is why it is known as the fusiform face area, although the integrit...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2005-01-15 00:00:00
abstract:INTRODUCTION:The Real Ordinance 2070/1999 meant an important modification in the legislation, when including transcranial Doppler (TCD) in explorations to confirm the clinical diagnosis of brain death (BD). Habitually for their employment in the diagnosis of BD, we look for blood flow signal from the middle cerebral ar...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-11-16 00:00:00
abstract:INTRODUCTION:Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy that starts in childhood and has an unknown pathophysiological mechanism. Studies on the progress of LGS reveal a poor prognosis. PATIENTS AND METHODS:A retrospective study of 1629 patients with epilepsy was conducted. Patients included in the s...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2011-03-01 00:00:00
abstract:INTRODUCTION:Attention disorders are a major problem after traumatic brain injury underlying deficits in other cognitive functions and in everyday activities, hindering the rehabilitation process and the possibility of return to work. Functional neuroimaging and neuropsychological assessment have depicted theoretical m...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2007-03-01 00:00:00
abstract:INTRODUCTION:In recent years the demand for ambulatory neurological care has risen. Studying this situation can help to improve health care planning and the quality of the referrals from primary care. AIM:To analyse a number of variables involved in the first visits referred from primary care to neurology services. P...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2007-05-01 00:00:00
abstract:INTRODUCTION:The development of scientific advances, constantly opening new frontiers of knowledge, leads to increasing complexity and specialization. DEVELOPMENT:The conflict between the never ending medical specialization and the opposite tendency, which is based mostly on economic grounds, prevents the acquisition ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2002-08-01 00:00:00
abstract:TITLE:Encefalitis multifocal como manifestación neurológica de la infección por COVID-19. ...
journal_title:Revista de neurologia
pub_type: 信件
doi:10.33588/rn.7109.2020226
更新日期:2020-11-01 00:00:00
abstract:INTRODUCTION:For the most part, what makes us different from other animal species is comprised within our brain. However, there is no single factor, no singular reason accounting for the difference between our brain and others; rather, differences appear multiple. DEVELOPMENT AND CONCLUSIONS:Here we perform an up-to-d...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2008-06-16 00:00:00
abstract:INTRODUCTION:Perforating artery disease is still the main cause of lacunar infarcts (LI), while the relationship between this type of ischemia and carotid stenosis (CS) is controversial. OBJECTIVE:To assess the association between CS and LI in patients with criteria of localized ischemia in the carotid territory separ...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1999-07-16 00:00:00
abstract:INTRODUCTION:Infection of the Central Nervous System by free living amebas is an unusual event, 344 cases have been reported to date. The disease becomes evident in two different clinical fashions: Primary Amebic Meningoencephalitis (PAM) caused by Naegleria fowleri and Granulomatous Amebic Encephalitis (GAE) induced b...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1998-06-01 00:00:00
abstract:INTRODUCTION AND OBJECTIVE:Some medical factors related with cardiopulmonary resuscitation (CPR) outcome are known. Moreover, there are other factors, not strictly medical ones, as age, gender, race and socioeconomic status, that influence on decisions of CPR. The aim of this study was to analyse the influence of all t...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1997-10-01 00:00:00
abstract:INTRODUCTION:The practical application of a questionnaire designed to evaluate the quality of life of an epileptic child, known as the CAVE test, is described. This is the first scale of its kind. The test consists of 8 parameters: conduct, attendance at school, learning, independence, social relationships, frequency o...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:1997-03-01 00:00:00
abstract:INTRODUCTION:The spinocerebellar ataxia type 2 has a prevalence of 43 per 100,000 inhabitants in Holguín province, which is the highest one reported worldwide. It is due to an intergenerational CAG repeat expansion contained in the first exon of disease causing gene, and it is characterized by a high variability in its...
journal_title:Revista de neurologia
pub_type: 杂志文章
doi:
更新日期:2001-12-16 00:00:00
abstract:TITLE:XXXI Reunion da Sociedade Galega de Neuroloxia. Comunicaciones. : ...
journal_title:Revista de neurologia
pub_type:
doi:
更新日期:2017-07-16 00:00:00
abstract:INTRODUCTION:Despite their importance, little attention has been given to the recognition of early markers of hyperactivity in the scientific literature and in everyday practice it can be difficult to separate some of the physiological behaviours displayed by older babies or preschool infants from pathological processe...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2006-02-13 00:00:00
abstract:INTRODUCTION:Alpha interferons (IFN a) have been shown to be effective in patients with chronic active hepatitis C. IFN a treatment may be associated with neurologic complications, including peripheral neuropathy. CASE REPORT:We describe a patient with active hepatitis C treated with IFN a, who developed peripheral ne...
journal_title:Revista de neurologia
pub_type: 杂志文章,评审
doi:
更新日期:2002-10-01 00:00:00